A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048869



Internal ID18791400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50020658..50056451hg38UCSC Ensembl
Innerchr14:50487376..50523169hg19UCSC Ensembl
Innerchr14:49557126..49592919hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3835794
hg1935794
hg1835794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531015
Samples
Known GenesLOC100506499
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048869
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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